Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.R214C
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TUBA4A

NM_006000.3:p.R214C

Associated Papers

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Benkirane M et al.

Brain : a Journal of Neurology, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."